Table 1.
Pakistani cohort characterization.
| Analysed individuals (n = 863) | Total counts | % |
|---|---|---|
| Index patients | 700 | 81.11% |
| Relatives | 163 | 18.89% |
| Sex (n = 863) | Total counts | % |
| Males | 532 | 61.65% |
| Females | 331 | 38.35% |
| Clinical status (n = 863) | Total counts | % |
| Clinically affected | 741 | 85.86% |
| Healthy/asymptomatic | 122 | 14.14% |
| Consanguinity status (n = 700 index patients/families) | Total counts | % |
| Consanguineous parents | 559 | 79.86% |
| Non-consanguineous parents | 122 | 17.43% |
| Not disclosed | 19 | 2.71% |
| Age at genetic testing (n = 863), expressed as years | Mean (median) | SD (range) |
| Clinically affected/symptomatic (n = 741) | 4.93 (3) | 6.17 (0–65) |
| Healthy/asymptomatic (n = 122) | 28.34 (29.5) | 10.52 (0–55) |